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Journal of Immunology Research
Volume 2014 (2014), Article ID 971818, 12 pages
Review Article

The Relevance of HLA Sequencing in Population Genetics Studies

1Department of Genetics and Evolution—Anthropology Unit, University of Geneva and Institute of Genetics and Genomics of Geneva (IGE3), 12 Rue Gustave-Revilliod, 1211 Geneva 4, Switzerland
2Department of Genetics and Evolutionary Biology, University of São Paulo, Rua do Matão 277, São Paulo, SP 05508-090, Brazil

Received 14 April 2014; Accepted 20 June 2014; Published 15 July 2014

Academic Editor: Jean-Marie Tiercy

Copyright © 2014 Alicia Sanchez-Mazas and Diogo Meyer. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Next generation sequencing (NGS) is currently being adapted by different biotechnological platforms to the standard typing method for HLA polymorphism, the huge diversity of which makes this initiative particularly challenging. Boosting the molecular characterization of the HLA genes through efficient, rapid, and low-cost technologies is expected to amplify the success of tissue transplantation by enabling us to find donor-recipient matching for rare phenotypes. But the application of NGS technologies to the molecular mapping of the MHC region also anticipates essential changes in population genetic studies. Huge amounts of HLA sequence data will be available in the next years for different populations, with the potential to change our understanding of HLA variation in humans. In this review, we first explain how HLA sequencing allows a better assessment of the HLA diversity in human populations, taking also into account the methodological difficulties it introduces at the statistical level; secondly, we show how analyzing HLA sequence variation may improve our comprehension of population genetic relationships by facilitating the identification of demographic events that marked human evolution; finally, we discuss the interest of both HLA and genome-wide sequencing and genotyping in detecting functionally significant SNPs in the MHC region, the latter having also contributed to the makeup of the HLA molecular diversity observed today.